Canonical Allele Identifier: CA1138937929

Gene:

Linked Data

• dbSNP Id: rs1370248454
• gnomAD v3: Y-8707915-A-ATTTTTTT
• gnomAD v4: Y-8707915-A-ATTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8707937_8707943dup , CM000686.2:g.8707937_8707943dup	GRCh38
NC_000024.9:g.8575978_8575984dup , CM000686.1:g.8575978_8575984dup	GRCh37
NC_000024.8:g.8635978_8635984dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000623558.1:c.139+8905_139+8911dup	ENSP00000485446.1:n.139+8905_139+8911dup
ENST00000624593.1:c.-57+40794_-57+40800dup	ENSP00000485106.1:n.-57+40794_-57+40800du...